We are looking forward to welcoming the AKU scientific community to Bratislava, Slovakia, next month for our 13th international scientific conference on AKU.
On the 27-28th of July we will unite AKU researchers, academics, and clinicians from around the world at the Faculty of Medicine, Comenius University, Bratislava. Our conference will allow us to update the wider AKU community on the current and future research being conducted into the condition.
If you would like to attend the conference in-person or virtually please get in touch with michael@akusociety.org for more information.
The address for the conference is: Faculty of Medicine, Comenius University, Scientific
Board meeting room, Moskovská 2, 811 08 Bratislava
Below is a copy of the agenda for the conference, where the topics and speakers presenting can be viewed:
| Thursday 27th July (9am-5:30pm) | |
| Time (CEST) | Agenda |
| 9:00 | Welcome remarks – Richard Imrich (Biomedical Research Centre Bratislava, Slovakia) |
| 9:05 | Aims and objectives of the workshop – Nick Sireau (AKU Society, UK) |
| Session 1: Hypertyrosinaemia in Alkaptonuria (AKU). Chair: Jim Gallagher (University of Liverpool, UK) | |
| 9:10 | Current state of the art and future challenges – Lakshminarayan Ranganath (University of Liverpool, UK) |
| 9:50 | Cataracts in AKU – Victoria Kearns (University of Liverpool, UK) |
| 10:10 | Assessing and monitoring cognitive abilities in adult AKU patients on low-dose nitisinone therapy: A longitudinal safety study – Pam Clarke (University of Liverpool, UK) |
| 10:25 | Dietetic approaches to managing hypertyrosinaemia in AKU on 10mg of Nitisinone – Clare Soulsby (National AKU Centre, UK) |
| 10:40 | Refreshment break |
| 11:00 | Phe-Tyr restricted diet and Plasma Tyrosine levels experience in Turkey – Pelin Teke Kisa (Dokuz Eylül Üniversitesi Hastanesi, Turkey) |
| 11:15 | The effect of nitisinone on bone mineral density in patient with AKU – Richard Imrich (Biomedical Research Centre Bratislava, Slovakia) |
| Session 2: Hypertyrosinaemia in Hereditary Tyrosinaemia type-1 (HT-1) Chair: Richard Imrich (Biomedical Research Centre Bratislava, Slovakia) | |
| 11:35 | Virtual Presentation: Current State Of The Art And Future Challenges – Francjan Van Spronsen (UMC Groningen, Netherlands) |
| 12:05 | Virtual Presentation: Understanding Tyrosinemia: A Journey of a father and a genetic engineer– Yang Liu (Tyrosinaemia Babies, China) |
| 12:20 | Tyrosine mitigation – Beth Barnby (University of Alabama in Huntsville, USA) |
| 12:35 | Lunch Break |
| Session 3: Genetic approaches to therapy. Chair: George Bou-Gharios (University of Liverpool, UK) | |
| 13:35 | Overview of genetics of AKU – implications for gene therapy – Andrea Zatkova (Biomedical Research Centre Bratislava, Slovakia) |
| 14:05 | AAV experience in delivering gene therapy to the liver – Rajvinder Karda (University College London, UK) |
| 14:50 | Liver-directed AAV gene therapy metabolically corrects AKU in Hgd deficient mice – Sien Lequeue (Vrije Universiteit Brussel, Belgium) |
| 15:20 | siRNA in Metabolic Liver Disease – Benny Garfinkel (Alnylam, USA) |
| 15:50 | mRNA Therapy (Explorna, Poland) |
| 16:10 | LNPs for targeting therapies to the liver (Syvento, Poland) |
| 16:30 | Refreshment break |
| Session 4: Non-genetic approaches to therapy. Chair: Edward Lock (Liverpool John Moores University, UK) | |
| 16:45 | Invited Lecture: The role of transporters in amino acid homeostasis – Stefan Broer (Australian National University, Australia) |
| 17:30 | End of day one. |
| Friday 28th July (9am-1pm) | |
| Session 4 continued: Non-genetic approaches to therapy. Chair: Edward Lock (Liverpool John Moores University, UK) | |
| 9:00 | Development of an SLC6A19 inhibitor for disorders of amino acid metabolism and the urea cycle Gulayse Ince Dunn (Sanofi, France) |
| 9:20 | Dietary regulation of tyrosinaemia in mice – Juliette Hughes (University of Liverpool, UK) |
| 9:40 | Development of a robust high-throughput screenings assay for the evaluation of bacterial tyrosine ammonia lyases in the context of tyrosinemia type 1 and alkaptonuria- Ine Nulmans (Vrije Universiteit Brussel, Belgium) |
| 10:10 | Refreshment break |
| 10:20 | Development of molecular imprinted polymers for therapy of PKU – MIPSALUS (Denmark) |
| Session 5: AKU Models and Diagnosis. Chair: Andrea Zatkova (Biomedical Research Centre Bratislava, Slovakia) | |
| 10:50 | Targeted Creation and Analysis of Alkaptonuria in Zebrafish Model – Peter Fabian (Masaryk University, Czechia) |
| 11:20 | Vibrational spectroscopy to study the formation and structure of HGA-derived pigment – Harriet Willett (University of Liverpool, UK) |
| 11:40 | Virtual presentation: Studying proximal tubulopathy using advanced in vitro models – Roos Masereeuw (Utercht University, Netherlands) |
| 12:00 | End of day two. |
This workshop is only possible thanks to a generous grant from the European Joint Programme on Rare Diseases (EJPRD) Networking Support Scheme and the support of the Biomedical Center of the Slovak Academy of Sciences and the Faculty of Medicine, Comenius University.
